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机译:Analysis of 200 unrelated individuals with a constitutional NF1 deep intronic pathogenic variant reveals that variants flanking the alternatively spliced NF1 exon 31 23a cause a classical neurofibromatosis type 1 phenotype while altering predominantly NF1 isoform type II
Medical Genomics Laboratory, Department of Genetics,University of Alabama at Birmingham;
Institute of Human Genetics,Medical University of Innsbruck;